Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

<p>Abstract</p> <p>Background</p> <p>Lipoid proteinosis is a rare autosomal recessive disease characterized by cutaneous and mucosal lesions and hoarseness appearing in early childhood. It is caused by homozygous or compound heterozygous mutations in the <it>ECM1 </it>gene. The disease is largely uncharacterized in Arab population and the mutation(s) spectrum in the Arab population is largely unknown. We report the neurologic and neuroradiologic characteristics and <it>ECM1 </it>gene mutations of seven individuals with lipoid proteinosis (LP) from three unrelated consanguineous families.</p> <p>Methods</p> <p>Clinical, neurologic, and neuro-ophthalmologic examinations; skin histopathology; brain CT and MRI; and sequencing of the full<it>ECM1 </it>gene.</p> <p>Results</p> <p>All seven affected individuals had skin scarring and hoarseness from early childhood. The two children in Family 1 had worse skin involvement and worse hoarseness than affected children of Families 2 and 3. Both children in Family 1 were modestly mentally retarded, and one had typical calcifications of the amygdalae on CT scan. Affected individuals in Families 2 and 3 had no grossneurologic, neurodevelopmental, or neuroimaging abnormalities. Skin histopathology was compatible with LP in all three families. Sequencing the full coding region of <it>ECM1 </it>gene revealed two novel mutationsin Family 1 (c.1300-1301delAA) and Family 2 (p.Cys269Tyr) and in Family 3 a previously described 1163 bp deletion starting 34 bp into intron 8.</p> <p>Conclusions</p> <p>These individuals illustrate the neurologic spectrum of LP, including variable mental retardation, personality changes, and mesial temporal calcificationand imply that significant neurologic involvement may be somewhat less common than previously thought. The cause of neurologic abnormalities was not clear from either neuroimaging or from what is known about <it>ECM1 </it>function. The severity of dermatologic abnormalities and hoarseness generally correlated with neurologic abnormalities, with Family 1 being somewhat more affected in all spheres than the other two families. Nevertheless, phenotype-genotype correlation was not obvious, possibly because of difficulty quantifying the neurologic phenotype and because of genetic complexity.</p

Nasal endoscopy in the management of congenital nasolacrimal duct obstruction

Probing is a reliable surgical intervention for the management of congenital nasolacrimal duct obstruction (CNLDO). However, it is a blind procedure that carries the risk of false passage formation. Moreover, its success rate is variable, with unexplained causes of failure. Recent literature suggests the use of nasal endoscopic-assisted probing to minimize nasal mucosal trauma, decreases the chance of creating a false passage and provides the optimum management option of different congenital variants of nasolacrimal duct obstruction. Nasal endoscopic-assisted probing has more or less consistent success rates varied between 85% and 98% compared with probing success rates, which vary between 55% and 95% despite having almost the same age range. Keywords: Nasal, Endoscope, Probing, Congenital, Nasolacrimal duct, Obstructio

Hemangioendothelioma of the eyelid can mimic chalazion

Hemangioendothelioma is an uncommon vascular lesion that usually occurs in the liver, bone, lung, skin, and other organs with unknown etiology. A rare form of this lesion has been reported in the eyelid. We report the case of a 27-year-old female with right lower eyelid mass simulating chalazion of 3 weeks duration. The histopathologic examination of the excised nodule confirmed the diagnosis. To our knowledge, this is the fourth case of eyelid epithelioid hemangioendothelioma reported in the English literature

Medial canthus retiform hemangioendothelioma

Retiform hemangioendothelioma (RH) is a distinct entity in the spectrum of vascular tumors with a high local recurrence rate. It is considered a low-grade, well-differentiated cutaneous angiosarcoma with low metastatic potential. We report here for the first time a case of medial canthus recurrent RH. It may be helpful in our practice to include RH as a differential diagnosis of eyelid lesions. It is noteworthy that the progressive course and recurrence tendency of RH might be misdiagnosed as angiosarcoma or basal cell carcinoma (BCC), if not expected and carefully evaluated by the pathologist

Orbital T-cell lymphoma in youngest recorded patient – early diagnosis, management, and successful outcome: a case report and review of the literature

Abstract Background Primary orbital peripheral T-cell lymphoma, not otherwise specified is an exceedingly rare disorder with a very poor outcome, and to the best of our knowledge only a few cases have been reported in the English literature. We present the youngest reported case describing the successful outcome after management with a thorough review of the English literature of all the reported cases of primary peripheral T-cell lymphoma, not otherwise specified. Case presentation Our patient is a 3-year-old Syrian boy who presented with gradual progressive orbital swelling. A physical examination showed a left orbital dystopia and a superior medial displacement of the globe. Extraocular motility was limited in upward elevation of his left eye. A computed tomography scan and magnetic resonance imaging of his orbit showed a mass involving the lateral and inferior walls of his left orbit and extending intraconally. A diagnosis of peripheral T-cell lymphoma, not otherwise specified was made by careful histopathological examination and Berlin-Frankfurt-Munster protocol was initiated. A 6-month follow up with orbital magnetic resonance imaging showed no sign of orbital or brain involvement. Conclusions Through this report we emphasize two takeaway lessons: (1) always have a high level of suspicion of this entity regardless of the age of the patient; and (2) careful histopathological examination is very important for prompt confirmation of the diagnosis and early commencement of proper treatment